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Genomics: Transforming Melanoma Diagnosis

Guest blog post by Brook Brouha, MD, PhD. Dr. Brouha is a practicing board-certified dermatologist and dermatopathologist at West Dermatology who has won speaking awards and authored peer-reviewed articles. After graduating third in his class from Dartmouth, he received his MD/PhD from Penn, with doctorate work in molecular biology. He trained dermatology at UC San Diego and dermatopathology at UT Southwestern.

Presented by Melanoma Awareness Month partner:

Genomic testing is revolutionizing the diagnosis of cancer, including melanoma skin cancer, by providing objective molecular information. Genomic testing can increase early disease detection leading to a greater probability of treatment success, help skin pathologists differentiate cancer from benign moles and can help identify which melanomas will behave aggressively. There are currently three commercially available genomic tests to aid in the diagnosis or prognosis of melanoma and it is helpful to understand the types of tests available and the utility of each so that you can be actively involved in the decision-making with your doctor.

In my practice, I have found gene expression testing is useful in the many cases where a patient’s mole falls between obviously benign and clearly melanoma. Surgical biopsies remain the standard of care for melanoma diagnosis, however there are numerous instances when we can avoid unnecessary cutting.  DermTech has developed a non-invasive adhesive patch, DermTech PLA, that identifies malignant changes on a molecular level and has less than a 1% chance of missing melanoma. Around 90% of patients who get the DermTech PLA patch test to rule out melanoma are negative in my hands. These patients are all going home without a scar, and with a lot of reassurance.

Myriad has developed myPath® Melanoma which is used on biopsy tissue when the distinction between a benign mole and a malignant melanoma cannot be made by pathology alone. The test measures the expression of 23 genes to produce a melanoma diagnostic score that separates melanoma from benign moles with a high degree of sensitivity (90-94%) and specificity (91-96%).

Castle’s DecisionDx for cutaneous melanoma is emerging as a helpful tool for long-term management of individuals with melanoma. The test predicts metastatic risk and the melanoma is classified as either Class 1 (low risk of metastasis) or Class 2 (high risk). These two classes are each subdivided to further stratify risk of metastasis. DecisionDx can help determine the need for sentinel lymph node biopsy (SLNB) or post-SLNB monitoring. The additional information can prove valuable in decision-making as two out of three patients who develop metastatic disease are identified as “node-negative” at diagnosis.

These genomics tests can add valuable information to your physician’s clinical observations allowing for a more informed treatment decision.

Advances in melanoma diagnosis and treatment mean better outcomes for more patients. Because of your support, the MRF is proud to lead a broad scientific agenda and support the breakthrough research that will lead to improved treatments and, one day, a cure.